News

July 29, 2019

Scientist Gets Funding to Create 3-D Bone Tissue Model for Gaucher

News

A Penn State University researcher will use a $65,000 grant from the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) to create a 3-D bone tissue model for the study ... Read more

July 25, 2019July 25, 2019

Centogene Rolls Out Free Biomarker App for Gaucher Patients

News

Germany’s Centogene is introducing a free smartphone app that lets people with Gaucher disease monitor their own progress. But an organization that represents Gaucher patients is concerned about what the ... Read more

July 22, 2019

Pentosan Polysulfate May Reduce Inflammation in Gaucher, Fabry, Study Suggests

News

Pentosan polysulfate (PPS), an approved medicine, may be a potential add-on treatment for Gaucher disease, helping reduce inflammation and bone alterations in cellular models of the condition, a study found. ... Read more

July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

News

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments ... Read more

July 15, 2019July 15, 2019

New Mouse Model of Gaucher Type 3 May Aid Studies into Disease and Possible Treatments

News

A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary tests of possible treatments than those now in use. The ... Read more

July 11, 2019

Lyso-Gb1 Biomarker May Be Useful for Monitoring Disease Activity in Children, Study Suggests

News

Glucosylsphingosine (lyso-Gb1) seems to be a useful biomarker for monitoring disease activity in children with Gaucher disease, helping physicians determine when enzyme replacement therapy should be initiated, a study suggests. ... Read more

July 5, 2019July 8, 2019

Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients

News

The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most ... Read more

July 4, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

News

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she ... Read more

July 1, 2019

Patients on Enzyme Replacement Therapy May Be Prone to Psychiatric Disorders, Study Suggests

News

Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according to an Egyptian team of researchers. Their study, “Psychiatric manifestations in Egyptian Gaucher patients on enzyme ... Read more

June 27, 2019

Experts Identify Early Signs and Factors of Gaucher Disease to Help Reduce Diagnostic Delays

News

The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building expert consensus of the disorder’s diagnosis and management — has identified several clinical signs and factors ... Read more